2-195891811-GAAA-GAAAA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_018897.3(DNAH7):c.4897-8_4897-7insT variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00028 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00027 (0 hom.)
• Consequence: DNAH7 NM_018897.3 splice_region, splice_polypyrimidine_tract, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.171

Genes affected

DNAH7 (HGNC:18661): (dynein axonemal heavy chain 7) DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DNAH7	NM_018897.3	c.4897-8_4897-7insT		splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant		ENST00000312428.11

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DNAH7	ENST00000312428.11	c.4897-8_4897-7insT		splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant		1	NM_018897.3	P1

Frequencies

GnomAD3 genomes AF: 0.000287 AC: 43 AN: 149568 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000909

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0000668

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000742

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.000268 AC: 289 AN: 1076414 Hom.: 0 Cov.: 0 AF XY: 0.000266 AC XY: 142 AN XY: 534322

Gnomad4 AFR exome AF: 0.00367

Gnomad4 AMR exome AF: 0.000281

Gnomad4 ASJ exome AF: 0.000105

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.000282

Gnomad4 FIN exome AF: 0.0000699

Gnomad4 NFE exome AF: 0.000185

Gnomad4 OTH exome AF: 0.000268

GnomAD4 genome AF: 0.000281 AC: 42 AN: 149678 Hom.: 0 Cov.: 0 AF XY: 0.000246 AC XY: 18 AN XY: 73038

Gnomad4 AFR AF: 0.000882

Gnomad4 AMR AF: 0.0000667

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000742

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs11292337; hg19: chr2-196756535;